Canonical Allele Identifier: CA2499214469
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1069778
ClinVar RCV Id: RCV001381743
dbSNP Id: rs2102796376
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817072dup , CM000663.2:g.215817072dup GRCh38
NC_000001.10:g.215990414dup , CM000663.1:g.215990414dup GRCh37
NC_000001.9:g.214057037dup NCBI36
NG_009497.1:g.611325dup
NG_009497.2:g.611377dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9495dup MANE Select ENSP00000305941.3:p.Glu3166Ter
ENST00000674083.1:c.9495dup ENSP00000501296.1:p.Glu3166Ter
ENST00000307340.7:c.9495dup ENSP00000305941.3:p.Glu3166Ter
NM_206933.2:c.9495dup NP_996816.2:p.Glu3166Ter
NM_206933.3:c.9495dup NP_996816.2:p.Glu3166Ter
NM_206933.4:c.9495dup MANE Select NP_996816.3:p.Glu3166Ter
Search 100 bp 5'
Search 100 bp 3'